RGD:156384033 Rat Genome Database

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Variant: RGD:156384033 -  Homo sapiens

RGD ID: 156384033
ClinVar ID: CV2361785
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ENKUR  THNSL1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 10 25,304,822
GRCh38 10 25,015,893
JBrowse: View Region in Genome Browser (JBrowse)
Model



HGVS Name(s)
Last Evaluated
Molecular Consequence
Clinical Significance
Trait Synonyms
NM_001270383.2:c.38-20024C>G
NM_145010.4:c.44C>G
NC_000010.11:g.25015893G>C
NC_000010.10:g.25304822G>C
More... 		11/15/2021 intron variant uncertain significance AllHighlyPenetrant

Gene Symbol:THNSL1
Accession:XM_017016665
Location:5UTRS;INTRON

Gene Symbol:THNSL1
Accession:XM_047425764
Location:5UTRS;INTRON

Gene Symbol:ENKUR
Accession:NM_145010
Location:EXON
Amino Acid Prediction: P to P (synonymous)
Amino Acid Position: 15
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MDPTCSSECIYNLIPSDLKEPPQPPRYISIFKATVKDDMQKAKTAMKTMGPAKVEVPSPKDFLKKHSKEKTLPPKKNFDR
NVPKKPAVPLKTDHPVMGIQSGKNFINTNAADIIMGVAKKPKPIYVDKRTGDKHDLEPSGLVPKYINKKDYGVTPEYICK
RNEEIKKAQEDYDRYIQENLKKAAMKRLSDEEREAVLQGLKKNWEEVHKEFQSLSVFIDSIPKKIRKQRLEEEMKQLEHD
IGIIEKHKIIYIANNA*

Gene Symbol:ENKUR
Accession:NR_072993
Location:EXON;NON-CODING

Gene Symbol:ENKUR
Accession:NR_072992
Location:EXON;NON-CODING

Gene Symbol:THNSL1
Accession:NM_024838
Location:INTRON

Gene Symbol:ENKUR
Accession:NM_001270383
Location:INTRON

Gene Symbol:THNSL1
Accession:XM_005252597
Location:INTRON

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Database
Acc Id
Source(s)
ClinVar RCV004223258 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ENKUR CLINVAR
  THNSL1 CLINVAR
OMIM 611025 CLINVAR
  611260 CLINVAR